388 related articles for article (PubMed ID: 32403337)
1. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain.
Gonzalez-Quereda L; Rodriguez MJ; Diaz-Manera J; Alonso-Perez J; Gallardo E; Nascimento A; Ortez C; Natera-de Benito D; Olive M; Gonzalez-Mera L; Munain AL; Zulaica M; Poza JJ; Jerico I; Torne L; Riera P; Milisenda J; Sanchez A; Garrabou G; Llano I; Madruga-Garrido M; Gallano P
Genes (Basel); 2020 May; 11(5):. PubMed ID: 32403337
[TBL] [Abstract][Full Text] [Related]
2. Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.
Stehlíková K; Skálová D; Zídková J; Haberlová J; Voháňka S; Mazanec R; Mrázová L; Vondráček P; Ošlejšková H; Zámečník J; Honzík T; Zeman J; Magner M; Šišková D; Langová M; Gregor V; Godava M; Smolka V; Fajkusová L
Clin Genet; 2017 Mar; 91(3):463-469. PubMed ID: 27447704
[TBL] [Abstract][Full Text] [Related]
3. Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.
Kitamura Y; Kondo E; Urano M; Aoki R; Saito K
J Hum Genet; 2016 Nov; 61(11):931-942. PubMed ID: 27357428
[TBL] [Abstract][Full Text] [Related]
4. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth.
Todd EJ; Yau KS; Ong R; Slee J; McGillivray G; Barnett CP; Haliloglu G; Talim B; Akcoren Z; Kariminejad A; Cairns A; Clarke NF; Freckmann ML; Romero NB; Williams D; Sewry CA; Colley A; Ryan MM; Kiraly-Borri C; Sivadorai P; Allcock RJ; Beeson D; Maxwell S; Davis MR; Laing NG; Ravenscroft G
Orphanet J Rare Dis; 2015 Nov; 10():148. PubMed ID: 26578207
[TBL] [Abstract][Full Text] [Related]
5. Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC; Walther-Louvier U; Espil-Taris C; Beze-Beyrie P; Rivier F; Baudou E; Uro-Coste E; Rigau V; Martin Negrier ML; Rendu J; Morales RJ; Pégeot H; Thèze C; Lacourt D; Coville AC; Cossée M; Cances C
Eur J Paediatr Neurol; 2021 Mar; 31():78-87. PubMed ID: 33667896
[TBL] [Abstract][Full Text] [Related]
6. Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH; Vasta V; Cho A; Lim BC; Zhang Q; Eun SH; Hahn SH
J Med Genet; 2015 Mar; 52(3):208-16. PubMed ID: 25635128
[TBL] [Abstract][Full Text] [Related]
7. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R; Perrin A; Solé G; Lacourt D; Pegeot H; Walther-Louvier U; Cintas P; Cances C; Espil C; Theze C; Zenagui R; Yauy K; Cosset E; Renard D; Rigau V; Maues de Paula A; Uro-Coste E; Arne-Bes MC; Martin Négrier ML; Leboucq N; Acket B; Malfatti E; Biancalana V; Metay C; Richard P; Rendu J; Rivier F; Koenig M; Cossée M
Genes (Basel); 2021 Jul; 12(8):. PubMed ID: 34440373
[TBL] [Abstract][Full Text] [Related]
8. Clinical exome sequencing in the diagnosis of pediatric neuromuscular disease.
Herman I; Lopez MA; Marafi D; Pehlivan D; Calame DG; Abid F; Lotze TE
Muscle Nerve; 2021 Mar; 63(3):304-310. PubMed ID: 33146414
[TBL] [Abstract][Full Text] [Related]
9. Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany.
Vill K; Blaschek A; Gläser D; Kuhn M; Haack T; Alhaddad B; Wagner M; Kovacs-Nagy R; Tacke M; Gerstl L; Schroeder AS; Borggraefe I; Mueller C; Schlotter-Weigel B; Schoser B; Walter MC; Müller-Felber W
J Neuromuscul Dis; 2017; 4(4):315-325. PubMed ID: 29172004
[TBL] [Abstract][Full Text] [Related]
10. Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service.
Westra D; Schouten MI; Stunnenberg BC; Kusters B; Saris CGJ; Erasmus CE; van Engelen BG; Bulk S; Verschuuren-Bemelmans CC; Gerkes EH; de Geus C; van der Zwaag PA; Chan S; Chung B; Barge-Schaapveld DQCM; Kriek M; Sznajer Y; van Spaendonck-Zwarts K; van der Kooi AJ; Krause A; Schönewolf-Greulich B; de Die-Smulders C; Sallevelt SCEH; Krapels IPC; Rasmussen M; Maystadt I; Kievit AJA; Witting N; Pennings M; Meijer R; Gillissen C; Kamsteeg EJ; Voermans NC
J Neuromuscul Dis; 2019; 6(2):241-258. PubMed ID: 31127727
[TBL] [Abstract][Full Text] [Related]
11. Increasing Role of Titin Mutations in Neuromuscular Disorders.
Savarese M; Sarparanta J; Vihola A; Udd B; Hackman P
J Neuromuscul Dis; 2016 Aug; 3(3):293-308. PubMed ID: 27854229
[TBL] [Abstract][Full Text] [Related]
12. [Application of targeted capture technology and next generation sequencing in molecular diagnosis of inherited myopathy].
Fu X; Liu A; Yang H; Wei C; Ding J; Wang S; Wang J; Yuan Y; Jiang Y; Xiong H
Zhonghua Er Ke Za Zhi; 2015 Oct; 53(10):741-6. PubMed ID: 26758109
[TBL] [Abstract][Full Text] [Related]
13. Next-Generation Sequencing to Diagnose Muscular Dystrophy, Rhabdomyolysis, and HyperCKemia.
Wu L; Brady L; Shoffner J; Tarnopolsky MA
Can J Neurol Sci; 2018 May; 45(3):262-268. PubMed ID: 29382405
[TBL] [Abstract][Full Text] [Related]
14. New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
Oliveira J; Gonçalves A; Taipa R; Melo-Pires M; Oliveira ME; Costa JL; Machado JC; Medeiros E; Coelho T; Santos M; Santos R; Sousa M
J Hum Genet; 2016 Jun; 61(6):497-505. PubMed ID: 26841830
[TBL] [Abstract][Full Text] [Related]
15. Guidelines for genetic testing of muscle and neuromuscular junction disorders.
Nicolau S; Milone M; Liewluck T
Muscle Nerve; 2021 Sep; 64(3):255-269. PubMed ID: 34133031
[TBL] [Abstract][Full Text] [Related]
16. Mutational and clinical spectrum in a cohort of Chinese patients with hereditary nemaline myopathy.
Wang Q; Hu Z; Chang X; Yu M; Xie Z; Lv H; Zhang W; Xiong H; Yuan Y; Wang Z
Clin Genet; 2020 Jun; 97(6):878-889. PubMed ID: 32222963
[TBL] [Abstract][Full Text] [Related]
17. New era in genetics of early-onset muscle disease: Breakthroughs and challenges.
Ravenscroft G; Davis MR; Lamont P; Forrest A; Laing NG
Semin Cell Dev Biol; 2017 Apr; 64():160-170. PubMed ID: 27519468
[TBL] [Abstract][Full Text] [Related]
18. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients.
Park J; Oh HM; Park HJ; Cho AR; Lee DW; Jang JH; Jang DH
Mol Genet Genomic Med; 2019 Oct; 7(10):e00947. PubMed ID: 31475473
[TBL] [Abstract][Full Text] [Related]
19. Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.
O'Grady GL; Lek M; Lamande SR; Waddell L; Oates EC; Punetha J; Ghaoui R; Sandaradura SA; Best H; Kaur S; Davis M; Laing NG; Muntoni F; Hoffman E; MacArthur DG; Clarke NF; Cooper S; North K
Ann Neurol; 2016 Jul; 80(1):101-11. PubMed ID: 27159402
[TBL] [Abstract][Full Text] [Related]
20. Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A; Mitsuhashi S; Miyata N; Nishino I
J Med Genet; 2017 Feb; 54(2):104-110. PubMed ID: 27600705
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
